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rs727502785

From SNPedia

Orientationplus
Geno Mag Summary
(-;-)
(-;C) 3 Carrier of progressive myoclonus epilepsy allele
(C;C) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position66638956
GeneKCTD7
is asnp
is mentioned by
dbSNPrs727502785
ebirs727502785
HLIrs727502785
Exacrs727502785
Varsomers727502785
Maprs727502785
PheGenIrs727502785
hapmaprs727502785
1000 genomesrs727502785
hgdprs727502785
ensemblrs727502785
gopubmedrs727502785
geneviewrs727502785
scholarrs727502785
googlers727502785
pharmgkbrs727502785
gwascentralrs727502785
openSNPrs727502785
23andMers727502785
23andMe allrs727502785
SNP Nexus

SNPshotrs727502785
SNPdbers727502785
MSV3drs727502785
GWAS Ctlgrs727502785
Max Magnitude3
ClinVar
Risk rs727502785(;)
Alt rs727502785(;)
Reference rs727502785(C;C)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene KCTD7
CLNDBN Epilepsy, progressive myoclonic 3
Reversed 0
HGVS NC_000007.13:g.66103943delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000030686.5,